Incidental Mutation 'IGL01776:Dcn'
| ID |
153857 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dcn
|
| Ensembl Gene |
ENSMUSG00000019929 |
| Gene Name |
decorin |
| Synonyms |
DC, SLRR1B |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01776
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
97315471-97354005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97330938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 91
(I91V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105287]
[ENSMUST00000163448]
|
| AlphaFold |
P28654 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105287
AA Change: I91V
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100924
Gene: ENSMUSG00000019929
AA Change: I91V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
LRRNT
|
48 |
80 |
3.86e-11 |
SMART |
|
LRR
|
79 |
98 |
2.54e1 |
SMART |
|
LRR
|
99 |
122 |
1.14e0 |
SMART |
|
LRR_TYP
|
123 |
146 |
2.91e-2 |
SMART |
|
LRR
|
147 |
167 |
1.67e2 |
SMART |
|
LRR
|
168 |
193 |
1.29e2 |
SMART |
|
LRR
|
194 |
217 |
5.27e1 |
SMART |
|
LRR
|
239 |
262 |
6.05e0 |
SMART |
|
LRR
|
263 |
286 |
1.01e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163448
AA Change: I91V
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131431
Gene: ENSMUSG00000019929
AA Change: I91V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
LRRNT
|
48 |
80 |
3.86e-11 |
SMART |
|
LRR
|
79 |
98 |
2.54e1 |
SMART |
|
LRR
|
99 |
122 |
1.14e0 |
SMART |
|
LRR_TYP
|
123 |
146 |
2.91e-2 |
SMART |
|
LRR
|
147 |
167 |
1.67e2 |
SMART |
|
LRR
|
168 |
193 |
1.29e2 |
SMART |
|
LRR
|
194 |
217 |
5.27e1 |
SMART |
|
LRR
|
239 |
262 |
6.05e0 |
SMART |
|
LRR
|
263 |
286 |
1.01e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219539
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate a mature protein product, which is secreted into the extracellular space to regulate collagen fibril assembly. Homozygous knockout mice for this gene exhibit enhanced tumorigenesis in a liver cancer model, and defects in collagen fibrils, leading to weakened skin and tendons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mutant mice have fragile skin and exhibit abnormal collagen morphology in skin and tendons, supporting this gene's role in regulating collagen fiber formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
G |
A |
5: 90,431,223 (GRCm39) |
Q854* |
probably null |
Het |
| Armc8 |
A |
G |
9: 99,408,936 (GRCm39) |
|
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,267 (GRCm39) |
V405A |
probably benign |
Het |
| Col8a2 |
C |
A |
4: 126,203,598 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
T |
A |
4: 98,829,178 (GRCm39) |
R2069S |
possibly damaging |
Het |
| Gm7247 |
A |
G |
14: 51,759,356 (GRCm39) |
S112G |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,547,789 (GRCm39) |
T2721P |
possibly damaging |
Het |
| Hsd3b3 |
T |
C |
3: 98,651,163 (GRCm39) |
T96A |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,552,610 (GRCm39) |
L936F |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,497,907 (GRCm39) |
P477S |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,980,133 (GRCm39) |
|
probably null |
Het |
| Mgmt |
T |
A |
7: 136,723,293 (GRCm39) |
L121* |
probably null |
Het |
| Mrps35 |
G |
A |
6: 146,972,214 (GRCm39) |
V286I |
probably benign |
Het |
| Naxd |
T |
C |
8: 11,555,525 (GRCm39) |
|
probably null |
Het |
| Pam |
A |
G |
1: 97,813,325 (GRCm39) |
|
probably null |
Het |
| Plcxd1 |
G |
A |
5: 110,249,246 (GRCm39) |
|
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,117,321 (GRCm39) |
|
probably null |
Het |
| Spag9 |
C |
T |
11: 94,007,553 (GRCm39) |
|
probably benign |
Het |
| Spire2 |
T |
C |
8: 124,086,131 (GRCm39) |
S288P |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,504,465 (GRCm39) |
V322A |
probably benign |
Het |
| Syt17 |
A |
C |
7: 118,009,176 (GRCm39) |
L343R |
probably damaging |
Het |
| Tap1 |
G |
A |
17: 34,412,102 (GRCm39) |
V436I |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
Het |
|
| Other mutations in Dcn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01519:Dcn
|
APN |
10 |
97,319,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Dcn
|
APN |
10 |
97,319,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02990:Dcn
|
APN |
10 |
97,345,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03181:Dcn
|
APN |
10 |
97,319,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03268:Dcn
|
APN |
10 |
97,319,240 (GRCm39) |
missense |
probably benign |
|
|
PIT4791001:Dcn
|
UTSW |
10 |
97,343,604 (GRCm39) |
missense |
probably benign |
|
|
R0091:Dcn
|
UTSW |
10 |
97,342,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0267:Dcn
|
UTSW |
10 |
97,342,345 (GRCm39) |
splice site |
probably benign |
|
|
R1759:Dcn
|
UTSW |
10 |
97,349,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1845:Dcn
|
UTSW |
10 |
97,342,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5322:Dcn
|
UTSW |
10 |
97,353,464 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6613:Dcn
|
UTSW |
10 |
97,330,902 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6650:Dcn
|
UTSW |
10 |
97,343,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7392:Dcn
|
UTSW |
10 |
97,345,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7596:Dcn
|
UTSW |
10 |
97,345,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Dcn
|
UTSW |
10 |
97,319,340 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7874:Dcn
|
UTSW |
10 |
97,346,056 (GRCm39) |
splice site |
probably null |
|
|
R8017:Dcn
|
UTSW |
10 |
97,319,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8049:Dcn
|
UTSW |
10 |
97,349,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Dcn
|
UTSW |
10 |
97,330,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9254:Dcn
|
UTSW |
10 |
97,343,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9273:Dcn
|
UTSW |
10 |
97,343,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Dcn
|
UTSW |
10 |
97,343,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation